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rs121913113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913113(A;A)
Make rs121913113(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1806076
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913113
ebirs121913113
HLIrs121913113
Exacrs121913113
Varsomers121913113
Maprs121913113
PheGenIrs121913113
hapmaprs121913113
1000 genomesrs121913113
hgdprs121913113
ensemblrs121913113
gopubmedrs121913113
geneviewrs121913113
scholarrs121913113
googlers121913113
pharmgkbrs121913113
gwascentralrs121913113
openSNPrs121913113
23andMers121913113
23andMe allrs121913113
SNP Nexus

SNPshotrs121913113
SNPdbers121913113
MSV3drs121913113
GWAS Ctlgrs121913113
Max Magnitude0
OMIM134934
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121913113(A;A)
Alt rs121913113(A;A)
Reference rs121913113(G;G)
Significance Pathogenic
Disease Camptodactyly
Variation info
Gene FGFR3
CLNDBN Camptodactyly, tall stature, and hearing loss syndrome
Reversed 0
HGVS NC_000004.11:g.1807803G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017765.29,